By Mohit Parekh, Barbara Poli, Stefano Ferrari, Corrado Teofili, Diego Ponzin
The goal of this booklet is to spotlight the newest findings in Aniridia study. Aniridia, that means “without iris”, is a unprecedented genetic affliction affecting imaginative and prescient, characterised by way of the unfinished formation of the iris (the colored a part of the attention that surrounds the black pupil). it will possibly additionally reason different segments of the attention to be under-developed comparable to the optic nerve and the macula (the critical a part of the retina). Aniridia and linked stipulations impact contributors in a different way. So whereas a few affected everyone is partly sighted or blind, others can have close to general sight. Aniridia is congenital (present at delivery) and is brought on by a disorder of the PAX6 gene, located at the eleventh chromosome that factors the untimely cessation of eye improvement. Aniridia impacts among 1:40,000 to 1:100,000 humans, and impacts men and women both. individuals with Aniridia can also event secondary stipulations resembling Photophobia, Nystagmus, Glaucoma, Cataracts and Keratopathy.
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Additional info for Aniridia: Recent Developments in Scientific and Clinical Research
Two studies suggest that the cause of dry eye in aniridia is due to the deficit of the mucous component with reduction of conjunctival goblet cells, while other studies observe an increase of these cells [12, 32]. Contradictory results 48 P. Rama et al. 8 % of patients. Further research has hypothesized that dystrophic epithelium, secondary to the limbal deficit, may alter the correct adhesion and distribution of the tear film on the corneal surface determining an analogous situation to dry eye disease [12, 32].
Ophthalmology 105:751–757 31. Rivier D, Paula JS, Kim E, Dohlman CH, Grosskreutz CL (2009) Glacuoma and keratoprosthesis surgery: role of adjunctive cyclophotocoagulation. J Glaucoma 18:321–324 32. Sbordone S, Romano V, Savastano A, Piccirillo V, Savastano MC, Bifani M (2013) Aniridiaassociated with lens coloboma and secondary glaucoma treated with transcorneal argon laser ciliary body photocoagulation: a case report. Case Rep Ophthalmol 4:44–47 33. Tsai JH, Freeman JM, Chan CC, Schwartz GS, Derby EA, Petersen MR, Holland EJ (2005) A progressive anterior fibrosis syndrome in patients with postsurgical congenital aniridia.
Keywords Aniridia • Limbal stem cell deficiency • Ocular surface • Limbal stem cell transplantation • Corneal transplantation Ocular Surface The ocular surface is a complex functional unit comprising the conjunctiva, the limbus, the cornea, the tear film, nervous system and loco-regional immune system . All of these components of the system guarantee an equilibrium which is fundamental for maintaining corneal transparency. P. Rama, MD (*) • M. A. it © Springer International Publishing Switzerland 2015 M.
Aniridia: Recent Developments in Scientific and Clinical Research by Mohit Parekh, Barbara Poli, Stefano Ferrari, Corrado Teofili, Diego Ponzin